Hey everyone today has been a stressful day with some encouraging moments.  When we first arrived at the appointment all was good and Eva was excited to see all of her doctors.  The first doctor came and took her to evaluate her while our main doctor, Dr. Emily, stayed back to talk to Michelle and I.  Leading up to this appointment we had read online that the gene therapy trial for CLN3 was pushed back to the end of 2023 but were not sure about any other details.  Dr. Emily began to tell us the bad news, that she was just informed that Amicus, the company who is now running the trial that Dr. Emily created, has decided to change the way they deliver the gene.  Originally it was given through the end of the spine but now they want to do it through the brain stem.  Dr. Emily was given no research to back up this decision as her original approach and trials on the 4 children have been successful and not showing any signs of the gene therapy or approach not effective.  This means that the study has to start over again and from scratch and so there is no real timeline on when this will be available or start again.  The Dr. said that she is not very confident in a timeline as they have pushed the study back 2x's at this point.  She is extremely devastated and was very apologetic to Michelle and I.  While the doctor was speaking my heart was racing and for the first time I had to ask to her to stop for a minute as the panic attack was taking over.  I had a feeling this was going to be the outcome but hearing it and being confirmed is too much to handle!  This past year and 9 months we have paused our family and have done everything we can to keep Eva a candidate for this hopeful trial and unfortunately Vivian and Everett have sacrificed extracurricular activities, trips, hanging out with cousins and friends, and as a family we have isolated to the extreme.  It was all worth it in the end, but I would be lying if at this moment I am feeling sorry for my family and a little hopeless on this day.  The doctor did inform us that there may be some oral drugs that will be available as a trial to treat CLN3 and when gene therapy is available it could act as an adjuvent (increasing the effectiveness when combined with other therapies.)  However there is no guarantee when that option will be available.  If the gene therapy does happen (eventually) the doctor is not hopeful it will be in Columbus, so we will most likely have to leave the state for a month if and when the time comes.   We also found out how truly rare this disease is as in the United State there are only 30 kids currently with CLN3!  That is crazy! [...]

Hi Everyone!

I actually started this page almost a year ago.  I thought we would use it to update friends and family on Eva's progress once her gene therapy trial started.  A few days ago, we found out that the gene therapy trial is possibly on hold until 2023.  This is devastating news to us.  I thought this site would be an easier way to update everyone all at once.  This way, Brendan and I do not have to go through the emotions of explaining that the trial is on hold over and over again.  [...]

Welcome to the Eva Smith support family! This site is for family and friends, old and new, to organize our efforts to support this extraordinary person. This page will serve as your home base for rallying the troops, receiving updates to support Eva Smith. Here's the plan:[...]